Article
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Neurology - 31 Jan 2017
Møller Rikke S, Wuttke Thomas V, Helbig Ingo, Marini Carla, Johannesen Katrine M, Brilstra Eva H, Vaher Ulvi, Borggraefe Ingo, Talvik Inga, Talvik Tiina, Kluger Gerhard, Francois Laurence L, Lesca Gaetan, de Bellescize Julitta, Blichfeldt Susanne, Chatron Nicolas, Holert Nils, Jacobs Julia, Swinkels Marielle, Betzler Cornelia, Syrbe Steffen, Nikanorova Marina, Myers Candace T, Larsen Line H G, Vejzovic Sabina, Pendziwiat Manuela, von Spiczak Sarah, Hopkins Sarah, Dubbs Holly, Mang Yuan, Mukhin Konstantin, Holthausen Hans, van Gassen Koen L, Dahl Hans A, Tommerup Niels, Mefford Heather C, Rubboli Guido, Guerrini Renzo, Lemke Johannes R, Lerche Holger, Muhle Hiltrud, Maljevic Snezana
Abstract excerpt
OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited...
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